Varaico: Literature-Extracted Genetic Variants

ADAMTSL4

228 papers

RefSeq Summary

This gene is a member of ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs)-like gene family and encodes a protein with seven thrombospondin type 1 repeats. The thrombospondin typ...

Pfam Domains

TSP_1aa 48–83UCSCThrombospondin type 1 domain

ADAMTS_CR_3aa 387–484UCSCADAMTS cysteine-rich domain

ADAMTS_spacer1aa 486–600UCSCADAM-TS Spacer 1

TSP1_ADAMTSaa 727–783UCSCThrombospondin type 1 domain

TSP1_ADAMTSaa 786–841UCSCThrombospondin type 1 domain

TSP1_ADAMTSaa 845–908UCSCThrombospondin type 1 domain

Gene Aliases

HGNC Name

ADAMTS like 4

HGNC Previous Symbol

TSRC1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_019032.6

p.E921_C922Splc

c.2764-27C>A

Surrounding Variants

1 paper

NM_001288608.2

p.E944_C945Splc

c.2833-1G>A

1 paper

NM_019032.6

p.E925G

c.2774A>G

2 papers

NM_019032.6

p.T930K

c.2789C>A

2 papers

NM_019032.6

p.R932H

c.2795G>A

1 paper

NM_019032.6

p.R933G

c.2797A>G

1 paper

NM_019032.6

p.E921_C922Splc

c.2763+12G>A

1 paper

NM_019032.6

p.W919C

c.2757G>C

1 paper

NM_019032.6

p.W919C

c.2757G>T

1 paper

NM_019032.6

p.W919*

c.2756G>A

1 paper

NM_019032.6

p.V947M

c.2839G>A

1 paper

NM_019032.6

p.P950L

c.2849C>T

1 paper

NM_019032.6

p.R913H

c.2738G>A